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Human Genome Project History

The Human Genome Project was a 15-year-long, publicly funded project initiated in 1990 with the objective of determining the DNA sequence of the entire euchromatic human genome within 15 years. In May 1985, Robert Sinsheimer organized a workshop to discuss sequencing the human genome, but the NIH was initially uninterested. However, with the support of a Federal Agency, the Santa Fe Workshop in March 1986 opened the path for converting the idea into a public policy in the United States. The project was officially launched in 1986 and received funding from both the DOE and NIH. The project was planned for 15 years and candidate technologies were already being considered in 1985. In 1990, a memorandum of understanding was developed between the DOE and NIH to coordinate plans and set the clock for the initiation of the project to 1990. The project was declared complete in April 2003.

State of Completion

The Human Genome Project was formally founded in 1990 by the US Department of Energy and the National Institutes of Health. The initial rough draft of the human genome was available in June 2000, and a working draft was completed and published in February 2001. The final sequencing mapping of the human genome was completed on April 14, 2003. The project filled in approximately 92% of the sequence, covering 99% of the euchromatic human genome with 99.99% accuracy.

Applications and Proposed Benefits

The sequencing of the human genome holds benefits for many fields, from molecular medicine to human evolution. It can help understand diseases, identify mutations linked to cancer, design medication, advance forensic sciences, develop biofuels and other energy applications, improve agriculture and animal husbandry, assess risks, and contribute to bioarcheology, anthropology, and evolution. The commercial development of genomics research related to DNA-based products is also expected to be a significant benefit.

Techniques and Analysis

Advances in genome sequencing technology have followed Moore's Law, allowing for increased speeds in sequencing whole genomes. The process of identifying the boundaries between genes and other features in a raw DNA sequence is called genome annotation and is performed through bioinformatics. RNA-seq technology was introduced in 2008, enabling direct sequencing of messenger RNA in cells and improving annotation accuracy.

Findings

Key findings of the draft and complete genome sequences include the presence of approximately 22,300 protein-coding genes in humans, the significant presence of segmental duplications in the human genome, and the identification of vertebrate-specific protein families. The project aimed to identify genetic variants that increase the risk for common diseases and contributed to the understanding of the genetic roots of diseases like cancer and diabetes.

Public versus Private Approaches

The Human Genome Project was a publicly funded project that aimed to make the genome sequence freely available. In 1998, a privately funded project by Craig Venter and Celera Genomics was launched as a faster and cheaper alternative. The two approaches initially competed, but later collaborated to release drafts of the genome sequence. The publicly funded project followed the "hierarchical shotgun" approach, while Celera used whole genome shotgun sequencing.

Genome Donors

The publicly funded project used DNA samples from anonymous donors, while Celera used DNA from five different individuals, including Craig Venter's sample. The Human Genome Project also led to the International HapMap Project, which collected DNA samples from different ethnic groups for DNA variation studies.

Accomplishment

The Human Genome Project resulted in the first printout of the human genome and provided a comprehensive understanding of the human genetic instruction set. It paved the way for advancements in medicine, biotechnology, agriculture, and evolutionary studies. Ethical, legal, and social implications were also considered, and the project contributed to the development of regulations and guidelines in genomic research.